2002-05-01   Thomas SK Wan , Edmond SK Ma 

1.Department of Pathology, University of Hong Kong, Pokfulam Road, Hong Kong, R.P. of China

Clinics and Pathology


10 cases of hematological malignancy with der(Y)t(Y;1) had been reported to date. There were 8 cases of myelodysplastic syndrome, 1 case of polycythemia vera and 1 case of myelofibrosis.

Phenotype stem cell origin

Suggested involvement of a pluripotent stem cell or a myeloid progenitor cell


Presence of der(Y)t(Y;1)(q12;q12) abnormality is relatively restricted to myelodysplastic syndrome.


Owing to the small number of cases reported, the prognostic implication of der(Y)t(Y;1) remains to be defined. It is however known to be compatible with long survival of up to 13 Ð 15 years. This aberration occurs as a transient abnormality in one case.

Genes Involved and Proteins

Genes involved are unknown. Whether an increased dosage of gene products located at 1q12-qter or the breakpoint at chromosomal location of Yq12 is important in the pathogenesis of MDS remains to be elucidated. Furthermore, since juxtaposition of heterochromatin and euchromatin has been shown to affect gene function, this may contribute to the pathogenic mechanism underlying der(Y)t(Y;1) as the heterochromatin at Yq12 is involved in the translocation.


Pubmed IDLast YearTitleAuthors
80314041994A rosy future for heterochromatin.Cook KR et al
31657041988An identical t(Y;1)(q12;q21) in two patients with myelodysplastic syndromes.Hollings PE et al
86167831996Translocation (Y;1)(q12;q12) in hematologic malignancies. Report on two new cases, FISH characterization, and review of the literature.Michaux L et al
86309871996Derivative (y)t(Y;1)(q12;q12),+9 in a patient with polycythemia vera during transition into myelodysplasia.Raymakers R et al
82425951993Translocation (Y;1)(q12;q21) in acute leukemia.Singh S et al
69439321981Karyotypic patterns and their clinical significance in polycythemia vera.Testa JR et al
20219221991Transient t(Y;1)(q12;q21) in a patient with Fanconi anemia and myelodysplastic syndrome.Thompson PW et al
82426021993der(Y)t(Y;1) is a nonrandom abnormality in myelodysplastic syndrome.Wei DC et al


Atlas Image
der(Y)t(Y;1)(q12;q12) G-banding


Thomas SK Wan ; Edmond SK Ma


Atlas Genet Cytogenet Oncol Haematol. 2002-05-01

Online version: http://atlasgeneticsoncology.org/haematological/1160/t(y;1)(q12;q12)